Showing 1-11 of 11 results for "

SAB1402110

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Calogero Virgone et al.
PloS one, 10(7), e0133019-e0133019 (2015-07-15)
The aim of this study was to investigate the expression of DAX-1 in a series of pediatric rhabdomyosarcomas (RMS) with known translocation and compare it to Ap2β, known to be selectively expressed in ARMS. We revised a series of 71...
A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism.
Liu Y
Journal of Pediatric Endocrinology & Metabolism : JPEM, 30(3), 349-353 (2017)
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
Barbaro M
The Journal of Clinical Endocrinology and Metabolism, 92(8), 3305-3313 (2007)
Yanxia Liu et al.
Journal of pediatric endocrinology & metabolism : JPEM, 30(3), 349-353 (2017-03-12)
Background The DAX-1 gene is associated with X-linked adrenal hypoplasia congenita (AHC). Our objective was to compare the DAX-1 gene sequence of two male siblings exhibiting different clinical manifestations of AHC. Methods Clinical features were analyzed and laboratory data were...
Michela Barbaro et al.
The Journal of clinical endocrinology and metabolism, 92(8), 3305-3313 (2007-05-17)
Testis development is a tightly regulated process that requires an efficient and coordinated spatiotemporal action of many factors, and it has been shown that several genes involved in gonadal development exert a dosage effect. Chromosomal imbalances have been reported in...
X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.
Yu T
Molecular Medicine Reports, 13(5), 4039-4045 (2016)
Lisha Mou et al.
PloS one, 10(7), e0133997-e0133997 (2015-07-25)
Secretory azoospermia is a severe form of male infertility caused by unknown factors. DAX-1 is predominantly expressed in mammalian reproductive tissues and plays an important role in spermatogenesis because Dax-1 knockout male mice show spermatogenesis defects. To examine whether DAX-1...
DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.
de Sousa GR
Hormone and Metabolic Research, 47(9), 656-661 (2015)
Tingting Yu et al.
Molecular medicine reports, 13(5), 4039-4045 (2016-04-02)
DAX1 is an orphan nuclear receptor that has a key role in the development and function of the adrenal and reproductive axes. Mutations in NR0B1, the gene encoding DAX1, result in X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG)....
A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.
Mou L
PLoS ONE, 10(7), 1-11 (2015)
G R V de Sousa et al.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme, 47(9), 656-661 (2015-05-20)
DAX1 transcription factor is a key determinant of adrenogonadal development, acting as a repressor of SF1 targets in steroidogenesis. It was recently demonstrated that DAX1 regulates pluripotency and differentiation in murine embryonic stem cells. In this study, we investigated DAX1...